Analysis is performed bi-directional sequencing of the coding exons 15 and 16 of the RET gene. Mutations found in the first of a family to be tested are confirmed by repeat analysis using sequencing, restriction fragment analysis, or another appropriate method.

Logistics

Test Indications:

This disorder is characterized by multiple mucosal neuromas of the lips, tongue, and conjunctiva. Patients often have a tall, thin, Marfanoid body habitus. Muscle wasting and weakness are a complication. Gastrointestinal symptoms secondary to ganglioneuromas and colonic diverticula are observed. MEN2B is associated with an increased risk of malignancy, including pheochromocytoma (50% of patients) and medullary thyroid carcinoma (100%).

Reasons for referral:
1. Confirmation of a clinical diagnosis
2. Genetic counseling
3. Identification of at-risk family members
4. Development of a screening program for the associated malignancies

Lab Testing Sections:

Anatomic Pathology - Sendouts

Referred to:

GeneDx, Inc. (GDX#: 178)

Phone Numbers:

MIN Lab: 612-813-6280

STP Lab: 651-220-6550

Test Availability:

Daily, 24 hours (Preferred draws are Sunday - Thursday as specimens can only be received at the reference lab Monday - Friday. Specimens collected Friday or Saturday will be held for shipment on Monday.)

Turnaround Time:

4 - 5 weeks for new patients

Special Instructions:

A GeneDx signed request form must be sent with any patient or specimen to the laboratory.

Specimen

Specimen Type:

Whole blood

Container:

Lavender top (EDTA) tube

Draw Volume:

1 - 5 mL blood

Processed Volume:

Same as Draw Volume

Collection:

Routine venipuncture for blood specimens, invert gently to mix

Special Processing:

Lab Staff: Send whole blood in original collection container labeled with patient name, date of birth and medical record number, including signed consent form and requisition, with a cool pack in warm weather, via overnight or second-day courier so that the sample will arrive at GeneDx, Inc. on a weekday (Monday through Friday). Samples drawn on Friday or Saturday should be held at refrigerated temperatures for shipment on Sunday. Do not freeze.
Note: Specimens may be stored at refrigerated temperatures for up to 7 days prior to shipping.

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